Macular cystoid spaces in patients with retinal dystrophy

Lingao, Michelle D.; Ganesh, Anuradha; Karthikeyan, A S; Zuhaibi, Sana Al; Al-Hosni, Amna; Khayat, Aisha Al; Capasso, Jenina E.; Trumler, Anya A.; Stroh, Eliza; Shekaili, Hilal Al; Cater, Jacqueline; Levin, Alex V.

doi:10.3109/13816810.2015.1101775

Cited by 22 publications

(10 citation statements)

References 41 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…However, cystoid macular edema does occur in up to 50% of RP patients further reducing visual function 23 . In contrast to the findings in dogs in this study human patients with cystoid macular edema have fluid accumulation within retinal layers rather in the subretinal space 23,24 …”

Section: Discussioncontrasting

confidence: 60%

Development of retinal bullae in dogs with progressive retinal atrophy

Marinho

Occelli

Bortolini

et al. 2021

Veterinary Ophthalmology

View full text Add to dashboard Cite

Objective To report the development of focal bullous retinal detachments (bullae) in dogs with different forms of progressive retinal atrophy (PRA). Procedures Dogs with three distinct forms of PRA (PRA‐affected Whippets, German Spitzes and CNGB1‐mutant Papillon crosses) were examined by indirect ophthalmoscopy and spectral domain optical coherence tomography (SD‐OCT). Retinal bullae were monitored over time. One CNGB1‐mutant dog was treated with gene augmentation therapy. The canine BEST1 gene coding region and flanking intronic sequence was sequenced in at least one affected dog of each breed. Results Multiple focal bullous retinal detachments (bullae) were identified in PRA‐affected dogs of all three types. They developed in 4 of 5 PRA‐affected Whippets, 3 of 8 PRA‐affected Germans Spitzes and 15 of 20 CNGB1‐mutant dogs. The bullae appeared prior to marked retinal degeneration and became less apparent as retinal degeneration progressed. Bullae were not seen in any heterozygous animals of any of the types of PRA. Screening of the coding region and flanking intronic regions of the canine BEST1 gene failed to reveal any associated pathogenic variants. Retinal gene augmentation therapy in one of the CNGB1‐mutant dogs appeared to prevent formation of bullae. Conclusions Retinal bullae were identified in dogs with three distinct forms of progressive retinal atrophy. The lesions develop prior to retinal thinning. This clinical change should be monitored for in dogs with PRA.

show abstract

Section: Discussioncontrasting

confidence: 60%

Development of retinal bullae in dogs with progressive retinal atrophy

Marinho

Occelli

Bortolini

et al. 2021

Veterinary Ophthalmology

View full text Add to dashboard Cite

show abstract

“…The OCTs of our patients were variable and not particularly correlated with their vision as previously reported. 25 In conclusion, we report the ocular findings of Heimler syndrome due to PEX6 mutations. Ophthalmic examination can be helpful in this disorder, showing a characteristic pattern on FAF along with changes on OCT, ffERG, and mfERG.…”

Section: Discussionmentioning

confidence: 69%

Ophthalmic manifestations of Heimler syndrome due to PEX6 mutations

Wangtiraumnuay

Alnabi

Tsukikawa

et al. 2018

Ophthalmic Genetics

Self Cite

View full text Add to dashboard Cite

show abstract

“…[ 6 11 12 ] Nonleaking MC is associated with mutations of genes that are related to the maintenance of retinal architecture, which includes CHM, NR2E3, XLRS1, and CRB1 . [ 13 ] CHM at Xq21.2 encodes for Rab escort protein 1 (REP-1) that controls intracellular trafficking and outer disc membrane shedding of RPE, which is postulated to cause choroideremia and nonleaking MC. [ 14 15 ] NR2E3 genetic mutation at 15q23 results in enhanced S-cone syndrome, Goldmann–Favre syndrome, and clumped pigmentary retinal degeneration.…”

Section: Discussionmentioning

confidence: 99%

Childhood cone–rod dystrophy with macular cyst formation in ABCA4 mutation identified by serial spectral-domain optical coherence tomography

Leung¹,

Ko²

2021

Taiwan Journal of Ophthalmology

View full text Add to dashboard Cite

Cone–rod dystrophy (CORD) is a type of progressive hereditary retinal dystrophies that causes cone predominant photoreceptor degeneration characterized by wide genotypic and phenotypic heterogeneity. Macular cyst (MC) occurs very infrequently in the pediatric age group and has rarely been described in CORD. We report a case of young-onset CORD that was affected by an isolated ABCA4 mutation complicated by the development of MC. Through serial spectral-domain ocular coherence tomography MC has been observed to persist for 24 months before its resolution, followed by retinal thinning and macular atrophy with corresponding visual acuity decline. The formation of MC and visual acuity appeared to be directly correlated in ABCA4 -related CORD and its manifestation is invaluable in predicting eventual visual loss. We further speculate that dysfunctional outer blood–retinal barrier may play a role in the pathophysiology of MC development in CORD.

show abstract

Macular cystoid spaces in patients with retinal dystrophy

Abstract: Non-leaking MCS occur in a variety of retinal dystrophies. Therapy with topical or systemic CAI has variable efficacy and may result in VA improvement with or without qualitative improvement in MCS and CFZ thickness.

Cited by 22 publications

References 41 publications

Development of retinal bullae in dogs with progressive retinal atrophy

Development of retinal bullae in dogs with progressive retinal atrophy

Ophthalmic manifestations of Heimler syndrome due to PEX6 mutations

Childhood cone–rod dystrophy with macular cyst formation in ABCA4 mutation identified by serial spectral-domain optical coherence tomography

Contact Info

Product

Resources

About